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NM_000518.4(HBB):c.[20A>T;428C>T] AND HEMOGLOBIN S (TRAVIS)

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 1992
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000016580.9

Alleles description

NM_000518.5(HBB):c.20A>T (p.Glu7Val)

Genes:
LOC106099062:HBB recombination region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
Other names:
E6V; HbS
HGVS:
  • NC_000011.10:g.5227002T>A
  • NG_000007.3:g.70614A>T
  • NG_042296.1:g.533T>A
  • NG_046672.1:g.4937T>A
  • NG_059281.1:g.5070A>T
  • NM_000518.5:c.20A>TMANE SELECT
  • NP_000509.1:p.Glu7Val
  • NP_000509.1:p.Glu7Val
  • LRG_1232t1:c.20A>T
  • LRG_1232:g.5070A>T
  • LRG_1232p1:p.Glu7Val
  • NC_000011.9:g.5248232T>A
  • NM_000518.4:c.20A>T
  • P68871:p.Glu7Val
Protein change:
E7V; Glu6Val
Links:
Genetic Testing Registry (GTR): GTR000115629; Genetic Testing Registry (GTR): GTR000500319; UniProtKB: P68871#VAR_002863; OMIM: 141900.0039; OMIM: 141900.0040; OMIM: 141900.0243; OMIM: 141900.0244; OMIM: 141900.0245; OMIM: 141900.0246; OMIM: 141900.0247; OMIM: 141900.0521; OMIM: 141900.0523; dbSNP: rs334
NCBI 1000 Genomes Browser:
rs334
Molecular consequence:
  • NM_000518.5:c.20A>T - missense variant - [Sequence Ontology: SO:0001583]

NM_000518.5(HBB):c.428C>T (p.Ala143Val)

Genes:
LOC110006319:beta-globin gene 3' regulatory region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.428C>T (p.Ala143Val)
Other names:
A142V
HGVS:
  • NC_000011.10:g.5225614G>A
  • NG_000007.3:g.72002C>T
  • NG_046672.1:g.3549G>A
  • NG_053049.1:g.1935G>A
  • NG_059281.1:g.6458C>T
  • NM_000518.5:c.428C>TMANE SELECT
  • NP_000509.1:p.Ala143Val
  • LRG_1232t1:c.428C>T
  • LRG_1232:g.6458C>T
  • LRG_1232p1:p.Ala143Val
  • NC_000011.9:g.5246844G>A
  • NM_000518.4:c.428C>T
Protein change:
A143V; ALA142VAL
Links:
OMIM: 141900.0247; dbSNP: rs33921821
NCBI 1000 Genomes Browser:
rs33921821
Molecular consequence:
  • NM_000518.5:c.428C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN S (TRAVIS)
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036849OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 1992) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Hb Rancho Mirage [beta 143(H21)His----Asp]; a variant in the 2,3-DPG binding site showing normal oxygen affinity at physiological pH.

Moo-Penn WF, Hine TK, Johnson MH, Jue DL, Holland S, George S, Pierce AM, Michalski LA, McDonald MJ.

Hemoglobin. 1992;16(1-2):35-44.

PubMed [citation]
PMID:
1634360

Details of each submission

From OMIM, SCV000036849.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

See Moo-Penn et al. (1977).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 26, 2023